1.
Pediatr Surg Int
; 16(3): 226-8, 2000.
Article
in English
| MEDLINE
| ID: mdl-10786990
ABSTRACT
A 45,X/46,Xidic(Y)(q11.2) mosaicism was found in a 4-year-old boy. The clinical appearance was characterized by bilateral cryptorchidism, penoscrotal hypospadias, short penis, and coarctation of the aorta. The latter is the only abnormality also seen in Turner syndrome. A biopsy of the gonads revealed normal prepubertal testicular tissue. A chromosome analysis in all boys with penoscrotal, scrotal, or perineal hypospadias and a thorough examination of the heart in children with 45,X/46,XY mosaicism are recommended.
Subject(s)
Aortic Coarctation/genetics , Gonadal Dysgenesis, Mixed/genetics , Hypospadias/genetics , Aortic Coarctation/complications , Aortic Coarctation/surgery , Child, Preschool , Chromosome Banding , Gonadal Dysgenesis, Mixed/complications , Gonadal Dysgenesis, Mixed/surgery , Humans , Hypospadias/complications , Hypospadias/surgery , Karyotyping , Male , Mosaicism
2.
Pathol Microbiol (Basel)
; 43(2-O): 107-13, 1975.
Article
in English
| MEDLINE
| ID: mdl-1228570
